講演情報
[P20-4]Vascular Ehlers-Danlos syndrome with deep-vein thrombosis : a case report and review of the literature
○黄 海鵬, 板谷 雪子, 矢部 慎一郎, 高井 泰 (埼玉医科大学総合医療センター 産婦人科)
Background: Ehlers-Danlos syndrome (EDS) is a connective tissue disease, classified into 13 types, including vascular Ehlers-Danlos syndrome (vEDS). During the course of vEDS, 70％ of adult patients developed vascular rupture, intestinal rupture, or organ rupture as initial symptoms. The cause of vEDS has been traced to the type III collagen gene (COL3A1). Case description: The patient was a 48-year-old woman. Multiple uterine fibroids complicated with anemia due to heavy menstrual bleeding were observed. The patient developed deep-vein thrombosis (DVT) in the lower limbs; the floating thrombosis caused bilateral pulmonary embolism. After disappearance of DVT by antithrombotic therapy, laparoscopic surgery was planned. The medical history was re-examined in detail based on physical findings including intraoperative tissue fragility. A lot of characteristics met several minor diagnostic criteria for vEDS. The patient underwent genetic counseling with a clinical geneticist and requested a molecular genetic test. A missense mutation was identified in the COL3A1 gene, which is the causative gene for vEDS.Discussion and conclusion: The present case suggests that patients with vEDS may have high risk for DVT. Currently, several factors are likely to cause DVT in patients with vEDS. One of them is vein dilation, which leads to venous valve dysfunction and thrombus formation due to blood stasis.